Sequence variations of GRM6 in patients with high myopia. - Wikidata - awgldk - TriplyDB

Sequence variations of GRM6 in patients with high myopia.

Sequence variations of GRM6 in patients with high myopia.

http://www.wikidata.org/entity/Q37395103

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Trio-based exome sequencing arrests de novo mutations in early-onset high myopia Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.ON pathway mutations increase susceptibility to form-deprivation myopia.Mutations in GRM6 identified in consanguineous Pakistani families with congenital stationary night blindness.Novel TRPM1 mutations in two Chinese families with early-onset high myopia, with or without complete congenital stationary night blindness.The Transduction Cascade in Retinal ON-Bipolar Cells: Signal Processing and Disease."mGlu Receptors in the Retina" - WIREs Membrane Transport and Signaling.Association of ZNF644, GRM6, and CTNND2 genes with high myopia in the Han Chinese population: Jiangsu Eye Study.

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Sequence variations of GRM6 in patients with high myopia.

http://www.wikidata.org/entity/Q37395103

description

article científic

@ca

article scientifique

@fr

articolo scientifico

@it

artigo científico

@pt

bilimsel makale

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scientific article published on 19 October 2009

@en

vedecký článok

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vetenskaplig artikel

@sv

videnskabelig artikel

@da

vědecký článek

@cs

name

Sequence variations of GRM6 in patients with high myopia.

@en

Sequence variations of GRM6 in patients with high myopia.

@nl

type

label

Sequence variations of GRM6 in patients with high myopia.

@en

Sequence variations of GRM6 in patients with high myopia.

@nl

prefLabel

Sequence variations of GRM6 in patients with high myopia.

@en

Sequence variations of GRM6 in patients with high myopia.

@nl

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Molecular Vision

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Sequence variations of GRM6 in patients with high myopia

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Panfeng Wang

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Qingjiong Zhang

http://www.w3.org/2001/XMLSchema#string

Shiqiang Li

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Xiangming Guo

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Xiaoyu Xu

http://www.w3.org/2001/XMLSchema#string

Xueshan Xiao

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P2860

Predicting deleterious amino acid substitutions

Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness

Night blindness-associated mutations in the ligand-binding, cysteine-rich, and intracellular domains of the metabotropic glutamate receptor 6 abolish protein trafficking

The COL1A1 gene and high myopia susceptibility in Japanese

The whole nucleotide sequence and chromosomal localization of the gene for human metabotropic glutamate receptor subtype 6

Night blindness and abnormal cone electroretinogram ON responses in patients with mutations in the GRM6 gene encoding mGluR6

SMART, a simple modular architecture research tool: identification of signaling domains

Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes

Mutations in NYX of individuals with high myopia, but without night blindness

SMART 6: recent updates and new developments

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2094-2100

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scholarly article

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15

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2009-10-19T00:00:00Z

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19862333

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2765235

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